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Objective To determine the incidence of azoospermia factor (AZF) microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y (SRY) in sex differentiation . Methods The microdeletion of AZF was detected by multiplex polymerase chain reaction (PCR) using Y-chromosome specific sequence tagged sites (STSs), and SRY was analyzed by PCR and sequencing. Results There were 100 cases with AZF microdeletion and the ratio of AZF microdeletion was 6.8% over all 1 474 cases. The ratios of AZF microdeletion of azoospermia group and severe oligozoospermia group were 9.0% and 7.1%, respectively, which was significantly different from oligozoospermia group (P<0.05). There were 67 cases with 5 STSs microdeletion of sY152, sY239, sY243, sY254 and sY255. There were 20 cases with long fragment deletion more than 10 STSs, and the patterns of AZF microdeletion in other 13 cases were rare. In all 9 patients with disorders of sex differentiation, there were 6 patients with SRY-absent and AZF-absent. There was no mutation of SRY gene by sequencing in other 3 patients with SRY-positive. Conclusion Deletions in AZF region of Y chromosome are specific with diagnoses with spermatogenesis disorder. Deletions of sY152, sY239, sY243, sY254 and sY255 occur the most frequently. SRY was an important candidate gene of testis-determining factor (TDF) gene.
Objective To determine the incidence of azoospermia factor (AZF) microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y (SRY) in sex differentiation. Methods The microdeletion of AZF was detected by multiplex polymerase chain reaction ) using Y-chromosome specific sequence tagged sites (STSs), and SRY was analyzed by PCR and sequencing. There were 100 cases with AZF microdeletion and the ratio of AZF microdeletion was 6.8% over all 1 474 cases. The ratios of AZF microdeletion There were 67 cases with 5 cases of STS microdeletion of sY152, sY239, sY243, sY254 and sY255. There were 67 cases with 5 cases of severe oligozoospermia 20 cases with long fragment deletion more than 10 STSs, and the patterns of AZF microdeletion in 13 cases were rare. In all 9 patients with disorders of sex differentiation, there were 6 patients with SRY-absent and AZF-absent. There was no mutation of SRY gene by sequencing in other 3 patients with SRY-positive. Conclusion Deletions in AZF region of Y chromosomes are specific with diagnoses with spermatogenesis disorder. Deletions of sY152, sY239, sY243, sY254 and sY255 occur the most frequently. SRY was an important candidate gene of testis-determining factor (TDF) gene.